ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52317A>G (p.Lys17439=) (rs370450339)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246418 SCV000319067 likely benign Cardiovascular phenotype 2013-11-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001083135 SCV000555323 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-28 criteria provided, single submitter clinical testing
GeneDx RCV000728842 SCV000716380 likely benign not provided 2019-08-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000728842 SCV000856460 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000728842 SCV001747988 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000614907 SCV001922513 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000728842 SCV001927579 likely benign not provided no assertion criteria provided clinical testing

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